S112N (p.Ser112Asn) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S112N (p.Ser112Asn) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
S112N (p.Ser112Asn) variant details
- p.Ser112Asn
- ExAC rs750463602
- gnomAD rs750463602
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 25.40
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)